Published on 04/23/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu Xiaoxuan et al. European journal of neurology 2020 Apr -
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan Jing et al. EBioMedicine 2020 Apr 54102730 -
Diagnostic and Therapeutic Applications of Genomic Medicine in Progressive, Late-Onset, Nonsyndromic Sensorineural Hearing Loss.
Jimenez Joaquin E et al. Gene 2020 Apr 144677
Cancer
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Addition of an online, validated family history questionnaire to the Dutch FIT-based screening programme did not improve its diagnostic yield.
Roos Victorine H et al. British journal of cancer 2020 Apr -
Genomic Profiling of Circulating Tumor DNA Predicts Outcome and Demonstrates Tumor Evolution in ALK-Positive Non-Small Cell Lung Cancer Patients.
Madsen Anne Tranberg et al. Cancers 2020 Apr 12(4) -
Circulating miR-21 as a Potential Biomarker for the Diagnosis of Oral Cancer: A Systematic Review with Meta-Analysis.
Dioguardi Mario et al. Cancers 2020 Apr 12(4) -
Investigating the Link between Lynch Syndrome and Breast Cancer.
Sheehan Megan et al. European journal of breast health 2020 Apr 16(2) 106-109 -
A 17-gene expression-based prognostic signature associated with the prognosis of patients with breast cancer: A STROBE-compliant study.
Qian Jin-Xian et al. Medicine 2020 Apr 99(15) e19255 -
Prognostic value of increased expression of RBM8A in gastric cancer.
Lv Xinting et al. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2020 53(4) e9290 -
POLE2 Serves as a Prognostic Biomarker and Is Associated with Immune Infiltration in Squamous Cell Lung Cancer.
Wu Zhen et al. Medical science monitor : international medical journal of experimental and clinical research 2020 Apr 26e921430 -
Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
Sutherland Nykole et al. Journal of genetic counseling 2020 Apr -
Mainstream consent programs for genetic counseling in cancer patients: A systematic review.
Scheinberg Tahlia et al. Asia-Pacific journal of clinical oncology 2020 Apr -
Expression Profile and Prognostic Values of HOXA Family Members in Laryngeal Squamous Cell Cancer.
Li Jinyun et al. Frontiers in oncology 2020 10368 -
Protein disulphide isomerase can predict the clinical prognostic value and contribute to malignant progression in gliomas.
Hu Qing et al. Journal of cellular and molecular medicine 2020 Apr -
The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure.
Menko Fred H et al. European journal of human genetics : EJHG 2020 Apr -
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke Cédric et al. Breast cancer research : BCR 2020 Apr 22(1) 36 -
Integrated Transcriptome Analyses and Experimental Verifications of Mesenchymal-Associated TNFRSF1A as a Diagnostic and Prognostic Biomarker in Gliomas.
Yang Biao et al. Frontiers in oncology 2020 10250 -
Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences.
Leskela Susanna et al. The American journal of surgical pathology 2020 May 44(5) 649-656 -
Abnormal expression of ABCD3 is an independent prognostic factor for colorectal cancer.
Zhang Yujiao et al. Oncology letters 2020 May 19(5) 3567-3577 -
PTEN mutation: A potential prognostic factor associated with immune infiltration in endometrial carcinoma.
Tao Ye et al. Pathology, research and practice 2020 Mar 152943 -
Screening TCGA database for prognostic genes in lower grade glioma microenvironment.
Ni Jie et al. Annals of translational medicine 2020 Mar 8(5) 209 -
Role of oncogenic KRAS in the diagnosis, prognosis and treatment of pancreatic cancer.
Buscail Louis et al. Nature reviews. Gastroenterology & hepatology 2020 17(3) 153-168 -
A blood-based 22-gene expression signature for hepatocellular carcinoma identification.
Zheng Jie et al. Annals of translational medicine 2020 Mar 8(5) 195 -
Integration of multiple key molecules in lung adenocarcinoma identifies prognostic and immunotherapeutic relevant gene signatures.
Wu Qiong et al. International immunopharmacology 2020 Apr 83106477 -
Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer.
Gupta Samir et al. Cancer 2020 Apr
Chronic Disease
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Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
Nestor Jordan G et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Apr
Ethics/Policy/Law
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What motivates the sharing of consumer-generated genomic information?
Hendricks-Sturrup Rachele M et al. SAGE open medicine 2020 82050312120915400 -
Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication.
Thomassen Hammerstad Gøril et al. Journal of genetic counseling 2020 Apr -
Biobanking for Genomic and Personalized Health Research: Participant Perceptions and Preferences.
Barnes Rebecca et al. Biopreservation and biobanking 2020 Apr -
Precision Medicine and the Institutional Review Board: Ethics and the Genome.
Matrana Marc R et al. The Ochsner journal 2020 20(1) 98-103 -
Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic Research Participation in Diverse Groups.
Burnett-Hartman Andrea N et al. Public health genomics 2020 Apr 1-10 -
Genetic testing for neurodegenerative diseases: Ethical and health communication challenges.
Roberts J Scott et al. Neurobiology of disease 2020 Apr 104871
Practice
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A road map for the future: An exploration of attitudes, perceptions, and beliefs among African Americans to tailor health promotion of cancer-related genetic counseling and testing.
Lumpkins Crystal Y et al. Journal of genetic counseling 2020 Apr -
A Roadmap for Global Acceleration of Genomics Integration Across Nursing.
Tonkin Emma et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2020 Apr -
In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.
Sabatello Maya et al. Public health genomics 2020 Apr 1-12 -
Transforming personalized nutrition practice.
Barrow Michelle et al. Nutrition reviews 2020 Apr
Heart, Lung, Blood and Sleep Diseases
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Alpha-1 Antitrypsin Deficiency and Pregnancy.
Gaeckle Nate T et al. COPD 2020 Apr 1-7 -
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.
Leal Luis G et al. Molecular genetics & genomic medicine 2020 Apr e1248 -
Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96 -
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
Mazzarotto Francesco et al. Journal of the American Heart Association 2020 Apr 9(8) e015473 -
Prevalence and diagnostic value of nail fold capillary microscopy in hereditary hemorrhagic telangiectasia: A retrospective study.
Kroon Steven et al. Vascular medicine (London, England) 2020 Apr 1358863X20910479 -
Development of a genomic DNA reference material panel for thalassemia genetic testing.
Yin Zhenzhen et al. International journal of laboratory hematology 2020 Apr -
microRNA neural networks improve diagnosis of acute coronary syndrome (ACS).
Kayvanpour Elham et al. Journal of molecular and cellular cardiology 2020 Apr -
Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.
Seidel Holger et al. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 261076029620912028 -
American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults.
DeBaun M R et al. Blood advances 2020 Apr 4(8) 1554-1588 -
A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2020 Apr 10(2)
Newborn Screening
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Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
Pharmacogenomics
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Understanding the state of pharmacogenomic testing for thiopurine methyltransferase within a large health system.
Root Adam et al. Pharmacogenomics 2020 Apr -
The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis.
Brown Lisa et al. Pharmacogenomics 2020 Apr -
Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective.
Tanner Julie-Anne et al. Pharmacogenomics 2020 Apr
Reproductive Health
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Preimplantation genetic testing for aneuploidy in poor ovarian responders with four or fewer oocytes retrieved.
Deng Jie et al. Journal of assisted reproduction and genetics 2020 Apr -
Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark.
Becher Naja et al. Acta obstetricia et gynecologica Scandinavica 2020 Apr -
The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.
Sillon Guillaume et al. Journal of genetic counseling 2020 Apr -
Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas.
Garza Georgiann et al. Journal of genetic counseling 2020 Apr -
Prenatal Testing In Pregnancies Conceived By In Vitro Fertilization With Pre-implantation Genetic Testing.
Arian Sara et al. Prenatal diagnosis 2020 Apr